Incidental Mutation 'R6016:Tnks1bp1'
ID |
478588 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnks1bp1
|
Ensembl Gene |
ENSMUSG00000033955 |
Gene Name |
tankyrase 1 binding protein 1 |
Synonyms |
TAB182 |
MMRRC Submission |
043255-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6016 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
84878366-84903392 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 84882734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 187
(L187P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107232
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111605]
|
AlphaFold |
P58871 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000111605
AA Change: L187P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000107232 Gene: ENSMUSG00000033955 AA Change: L187P
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
44 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
low complexity region
|
296 |
316 |
N/A |
INTRINSIC |
low complexity region
|
380 |
391 |
N/A |
INTRINSIC |
low complexity region
|
496 |
518 |
N/A |
INTRINSIC |
low complexity region
|
739 |
758 |
N/A |
INTRINSIC |
low complexity region
|
954 |
960 |
N/A |
INTRINSIC |
low complexity region
|
1471 |
1489 |
N/A |
INTRINSIC |
low complexity region
|
1530 |
1537 |
N/A |
INTRINSIC |
Tankyrase_bdg_C
|
1545 |
1717 |
1.98e-79 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126309
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139915
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148682
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150200
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151092
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
Shkbp1 |
A |
G |
7: 27,053,826 (GRCm39) |
V124A |
possibly damaging |
Het |
Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
probably damaging |
Het |
|
Other mutations in Tnks1bp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00870:Tnks1bp1
|
APN |
2 |
84,892,580 (GRCm39) |
nonsense |
probably null |
|
IGL00974:Tnks1bp1
|
APN |
2 |
84,893,226 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01874:Tnks1bp1
|
APN |
2 |
84,888,791 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02419:Tnks1bp1
|
APN |
2 |
84,902,125 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02441:Tnks1bp1
|
APN |
2 |
84,902,143 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02475:Tnks1bp1
|
APN |
2 |
84,889,721 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03181:Tnks1bp1
|
APN |
2 |
84,893,058 (GRCm39) |
missense |
probably benign |
0.00 |
K3955:Tnks1bp1
|
UTSW |
2 |
84,892,755 (GRCm39) |
missense |
probably benign |
0.01 |
P0038:Tnks1bp1
|
UTSW |
2 |
84,892,755 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4791001:Tnks1bp1
|
UTSW |
2 |
84,892,902 (GRCm39) |
missense |
probably benign |
0.03 |
R0068:Tnks1bp1
|
UTSW |
2 |
84,892,696 (GRCm39) |
missense |
probably benign |
0.12 |
R0068:Tnks1bp1
|
UTSW |
2 |
84,892,696 (GRCm39) |
missense |
probably benign |
0.12 |
R0164:Tnks1bp1
|
UTSW |
2 |
84,889,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0164:Tnks1bp1
|
UTSW |
2 |
84,889,565 (GRCm39) |
missense |
possibly damaging |
0.94 |
R0189:Tnks1bp1
|
UTSW |
2 |
84,901,273 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0454:Tnks1bp1
|
UTSW |
2 |
84,902,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R0650:Tnks1bp1
|
UTSW |
2 |
84,892,974 (GRCm39) |
missense |
possibly damaging |
0.68 |
R0737:Tnks1bp1
|
UTSW |
2 |
84,882,880 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1718:Tnks1bp1
|
UTSW |
2 |
84,902,082 (GRCm39) |
missense |
probably benign |
0.44 |
R1749:Tnks1bp1
|
UTSW |
2 |
84,893,411 (GRCm39) |
missense |
probably benign |
|
R2194:Tnks1bp1
|
UTSW |
2 |
84,893,409 (GRCm39) |
missense |
probably benign |
0.06 |
R2314:Tnks1bp1
|
UTSW |
2 |
84,889,259 (GRCm39) |
missense |
probably benign |
0.01 |
R2379:Tnks1bp1
|
UTSW |
2 |
84,894,182 (GRCm39) |
missense |
probably benign |
0.16 |
R3056:Tnks1bp1
|
UTSW |
2 |
84,900,344 (GRCm39) |
nonsense |
probably null |
|
R3433:Tnks1bp1
|
UTSW |
2 |
84,901,360 (GRCm39) |
splice site |
probably benign |
|
R3751:Tnks1bp1
|
UTSW |
2 |
84,889,066 (GRCm39) |
start gained |
probably benign |
|
R4502:Tnks1bp1
|
UTSW |
2 |
84,892,991 (GRCm39) |
nonsense |
probably null |
|
R4694:Tnks1bp1
|
UTSW |
2 |
84,902,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R4785:Tnks1bp1
|
UTSW |
2 |
84,893,378 (GRCm39) |
missense |
probably damaging |
1.00 |
R5079:Tnks1bp1
|
UTSW |
2 |
84,892,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R5208:Tnks1bp1
|
UTSW |
2 |
84,900,976 (GRCm39) |
missense |
probably damaging |
0.96 |
R5265:Tnks1bp1
|
UTSW |
2 |
84,893,098 (GRCm39) |
missense |
probably benign |
0.01 |
R5512:Tnks1bp1
|
UTSW |
2 |
84,893,178 (GRCm39) |
missense |
probably benign |
0.00 |
R5557:Tnks1bp1
|
UTSW |
2 |
84,894,144 (GRCm39) |
missense |
probably damaging |
0.97 |
R6177:Tnks1bp1
|
UTSW |
2 |
84,889,624 (GRCm39) |
start gained |
probably benign |
|
R6516:Tnks1bp1
|
UTSW |
2 |
84,901,071 (GRCm39) |
missense |
probably damaging |
0.97 |
R6517:Tnks1bp1
|
UTSW |
2 |
84,889,689 (GRCm39) |
missense |
probably benign |
0.00 |
R7032:Tnks1bp1
|
UTSW |
2 |
84,892,297 (GRCm39) |
missense |
probably benign |
0.00 |
R7120:Tnks1bp1
|
UTSW |
2 |
84,902,441 (GRCm39) |
missense |
probably damaging |
1.00 |
R7302:Tnks1bp1
|
UTSW |
2 |
84,882,698 (GRCm39) |
missense |
probably benign |
0.24 |
R7393:Tnks1bp1
|
UTSW |
2 |
84,893,210 (GRCm39) |
missense |
probably benign |
|
R7535:Tnks1bp1
|
UTSW |
2 |
84,893,624 (GRCm39) |
nonsense |
probably null |
|
R7596:Tnks1bp1
|
UTSW |
2 |
84,893,057 (GRCm39) |
missense |
probably benign |
0.14 |
R7680:Tnks1bp1
|
UTSW |
2 |
84,889,585 (GRCm39) |
missense |
probably benign |
0.36 |
R8345:Tnks1bp1
|
UTSW |
2 |
84,893,226 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8413:Tnks1bp1
|
UTSW |
2 |
84,892,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R8768:Tnks1bp1
|
UTSW |
2 |
84,900,980 (GRCm39) |
nonsense |
probably null |
|
R8936:Tnks1bp1
|
UTSW |
2 |
84,894,320 (GRCm39) |
missense |
probably benign |
0.00 |
R8991:Tnks1bp1
|
UTSW |
2 |
84,894,290 (GRCm39) |
missense |
probably benign |
0.00 |
R9007:Tnks1bp1
|
UTSW |
2 |
84,901,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R9118:Tnks1bp1
|
UTSW |
2 |
84,893,720 (GRCm39) |
missense |
probably damaging |
1.00 |
R9709:Tnks1bp1
|
UTSW |
2 |
84,902,125 (GRCm39) |
missense |
probably benign |
0.00 |
R9732:Tnks1bp1
|
UTSW |
2 |
84,889,727 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tnks1bp1
|
UTSW |
2 |
84,893,874 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Tnks1bp1
|
UTSW |
2 |
84,889,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTTACCCAAGAGTCTGGGAAGG -3'
(R):5'- TGAGCCCACTTCCTCCATAG -3'
Sequencing Primer
(F):5'- AGAAGACTTGCCCCCTCTC -3'
(R):5'- TAGCCCCTTTAAGACTTCAAGG -3'
|
Posted On |
2017-06-26 |